Nonsyndromic X-linked intellectual deficiency in three brothers with a novel MED12 missense mutation [c.5922G>T (p.Glu1974His)]

由 Bouazzi, Habib, Lesca, Gaetan, Trujillo, Carlos, Alwasiyah, Mohammad Khalid, Munnich, Arnold
發表在 Clin Case Rep (2015)

Are c.436G>A mutations less severe forms of Lafora disease? A case report()

由 Lanoiselée, Hélène-Marie, Genton, Pierre, Lesca, Gaetan, Brault, Florence, De Toffol, Bertrand
發表在 Epilepsy Behav Case Rep (2014)

Infantile-Onset Ascending Hereditary Spastic Paralysis Is Associated with Mutations in the Alsin Gene

由 Eymard-Pierre, Eleonore, Lesca, Gaetan, Dollet, Sandra, Santorelli, Filippo Maria, di Capua, Matteo, Bertini, Enrico, Boespflug-Tanguy, Odile
出版 2002

Chromatin remodeling dysfunction extends the etiological spectrum of schizophrenia: a case report

由 Poisson, Alice, Chatron, Nicolas, Labalme, Audrey, Fourneret, Pierre, Ville, Dorothée, Mathieu, Marie Laure, Sanlaville, Damien, Demily, Caroline, Lesca, Gaëtan
發表在 BMC Med Genet (2020)

Erotomania and phenotypic continuum in a family frameshift variant of AUTS2: a case report and review

由 GAULD, Christophe, POISSON, Alice, REVERSAT, Julie, PEYROUX, Elodie, HOUDAYER-ROBERT, Françoise, ROSSI, Massimiliano, LESCA, Gaetan, SANLAVILLE, Damien, DEMILY, Caroline
發表在 BMC Psychiatry (2021)

A de novo frameshift pathogenic variant in TBR1 identified in autism without intellectual disability

由 Sapey-Triomphe, Laurie-Anne, Reversat, Julie, Lesca, Gaëtan, Chatron, Nicolas, Bussa, Marina, Mazoyer, Sylvie, Schmitz, Christina, Sonié, Sandrine, Edery, Patrick
發表在 Hum Genomics (2020)

Novel homozygous missense variant of GRIN1 in two sibs with intellectual disability and autistic features without epilepsy

由 Rossi, Massimiliano, Chatron, Nicolas, Labalme, Audrey, Ville, Dorothée, Carneiro, Maryline, Edery, Patrick, des Portes, Vincent, Lemke, Johannes R, Sanlaville, Damien, Lesca, Gaetan
發表在 Eur J Hum Genet (2017)

Genetic Counselling Pitfall: Co-Occurrence of an 11.8-Mb Xp22 Duplication and an Xp21.2 Duplication Disrupting IL1RAPL1

由 Chatron, Nicolas, Thibault, Lucie, Lespinasse, James, Labalme, Audrey, Schluth-Bolard, Caroline, Till, Marianne, Edery, Patrick, Touraine, Renaud, des Portes, Vincent, Lesca, Gaetan, Sanlaville, Damien
發表在 Mol Syndromol (2017)

Characterization of two familial cases presenting with a syndromic specific learning disorder and carrying (17q;21q) unbalanced translocations

由 Coton, Julie, Labalme, Audrey, Till, Marianne, Bussy, Gerald, Krifi Papoz, Sonia, Lesca, Gaetan, Heron, Delphine, Sanlaville, Damien, Edery, Patrick, des Portes, Vincent, Rossi, Massimiliano
發表在 Clin Case Rep (2018)

Lafora progressive myoclonus epilepsy: NHLRC1 mutations affect glycogen metabolism

由 Couarch, Philippe, Vernia, Santiago, Gourfinkel-An, Isabelle, Lesca, Gaëtan, Gataullina, Svetlana, Fedirko, Estelle, Trouillard, Oriane, Depienne, Christel, Dulac, Olivier, Steschenko, Dominique, Leguern, Eric, Sanz, Pascual, Baulac, Stéphanie
出版 2011

Asparagine synthetase deficiency: A novel case with an unusual molecular mechanism

由 Faoucher, Marie, Poulat, Anne-Lise, Chatron, Nicolas, Labalme, Audrey, Schluth-Bolard, Caroline, Till, Marianne, Vianey-Saban, Christine, Portes, Vincent Des, Edery, Patrick, Sanlaville, Damien, Lesca, Gaëtan, Acquaviva, Cécile
發表在 Mol Genet Metab Rep (2019)

Sequence variations of ACVRL1 play a critical role in hepatic vascular malformations in hereditary hemorrhagic telangiectasia

由 Giraud, Sophie, Bardel, Claire, Dupuis-Girod, Sophie, Carette, Marie-France, Gilbert-Dussardier, Brigitte, Riviere, Sophie, Saurin, Jean-Christophe, Eyries, Mélanie, Patri, Sylvie, Decullier, Evelyne, Calender, Alain, Lesca, Gaëtan
發表在 Orphanet J Rare Dis (2020)

Postnatal clinical phenotype of five patients with Pallister–Killian Syndrome (tetrasomy 12p): Interest of array CGH for diagnosis and review of the literature

由 Alqahtani, Amerh Salem, Putoux, Audrey, Bonnet Dupeyron, Marie Noelle, Carneiro, Maryline, Lion‐Francois, Laurence, Rossi, Massimiliano, Tevissen, Hélène, Schluth Bolard, Caroline, Labalme, Audrey, Lesca, Gaetan, Till, Marianne, Edery, Patrick, Sanlaville, Damien
發表在 Mol Genet Genomic Med (2019)

Transit Defect of Potassium-Chloride Co-transporter 3 Is a Major Pathogenic Mechanism in Hereditary Motor and Sensory Neuropathy with Agenesis of the Corpus Callosum

由 Salin-Cantegrel, Adèle, Rivière, Jean-Baptiste, Shekarabi, Masoud, Rasheed, Sarah, DaCal, Sandra, Laganière, Janet, Gaudet, Rébecca, Rochefort, Daniel, Lesca, Gaëtan, Gaspar, Claudia, Dion, Patrick A., Lapointe, Jean-Yves, Rouleau, Guy A.
出版 2011

Rare variants in the GABA(A) receptor subunit ε identified in patients with a wide spectrum of epileptic phenotypes

由 Markus, Fenja, Angelini, Chloé, Trimouille, Aurelien, Rudolf, Gabrielle, Lesca, Gaetan, Goizet, Cyril, Lasseaux, Eulalie, Arveiler, Benoit, van Slegtenhorst, Marjon, Brooks, Alice S., Abou Jamra, Rami, Korenke, Georg‐Christoph, Neidhardt, John, Owczarek‐Lipska, Marta
發表在 Mol Genet Genomic Med (2020)

Clinical interpretation of variants identified in RNU4ATAC, a non-coding spliceosomal gene

由 Benoit-Pilven, Clara, Besson, Alicia, Putoux, Audrey, Benetollo, Claire, Saccaro, Clément, Guguin, Justine, Sala, Gabriel, Cologne, Audric, Delous, Marion, Lesca, Gaetan, Padgett, Richard A., Leutenegger, Anne-Louise, Lacroix, Vincent, Edery, Patrick, Mazoyer, Sylvie
發表在 PLoS One (2020)

Infantile Convulsions with Paroxysmal Dyskinesia (ICCA Syndrome) and Copy Number Variation at Human Chromosome 16p11

由 Roll, Patrice, Sanlaville, Damien, Cillario, Jennifer, Labalme, Audrey, Bruneau, Nadine, Massacrier, Annick, Délepine, Marc, Dessen, Philippe, Lazar, Vladimir, Robaglia-Schlupp, Andrée, Lesca, Gaëtan, Jouve, Elisabeth, Rudolf, Gabrielle, Rochette, Jacques, Lathrop, G. Mark, Szepetowski, Pierre
出版 2010

Molecular investigation, using chromosomal microarray and whole exome sequencing, of six patients affected by Williams Beuren syndrome and Autism Spectrum Disorder

由 Masson, Julie, Demily, Caroline, Chatron, Nicolas, Labalme, Audrey, Rollat-Farnier, Pierre-Antoine, Schluth-Bolard, Caroline, Gilbert-Dussardier, Brigitte, Giuliano, Fabienne, Touraine, Renaud, Tordjman, Sylvie, Verloes, Alain, Testa, Giuseppe, Sanlaville, Damien, Edery, Patrick, Lesca, Gaetan, Rossi, Massimiliano
發表在 Orphanet J Rare Dis (2019)

West syndrome caused by homozygous variant in the evolutionary conserved gene encoding the mitochondrial elongation factor GUF1

由 Alfaiz, Ali Abdullah, Müller, Verena, Boutry-Kryza, Nadia, Ville, Dorothée, Guex, Nicolas, de Bellescize, Julitta, Rivier, Clotilde, Labalme, Audrey, des Portes, Vincent, Edery, Patrick, Till, Marianne, Xenarios, Ioannis, Sanlaville, Damien, Herrmann, Johannes M, Lesca, Gaétan, Reymond, Alexandre
發表在 Eur J Hum Genet (2016)

Refining Genotypes and Phenotypes in KCNA2-Related Neurological Disorders

由 Döring, Jan H., Schröter, Julian, Jüngling, Jerome, Biskup, Saskia, Klotz, Kerstin A., Bast, Thomas, Dietel, Tobias, Korenke, G. Christoph, Christoph, Sophie, Brennenstuhl, Heiko, Rubboli, Guido, Møller, Rikke S., Lesca, Gaetan, Chaix, Yves, Kölker, Stefan, Hoffmann, Georg F., Lemke, Johannes R., Syrbe, Steffen
發表在 Int J Mol Sci (2021)